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Journal Abstract Search

242 related items for PubMed ID: 3257264

  • 1. Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
    Bartholomew DW, Batshaw ML, Allen RH, Roe CR, Rosenblatt D, Valle DL, Francomano CA.
    J Pediatr; 1988 Jan; 112(1):32-9. PubMed ID: 3257264
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  • 2. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
    Huang Z, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Ji WJ, Li XY, Gu XF.
    Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
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  • 3. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
    Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O'Brien A, Brunel-Guitton C, Rosenblatt DS, Mitchell GA.
    Mol Genet Metab; 2024 May; 142(1):108345. PubMed ID: 38387306
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  • 5. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
    Cornec-Le Gall E, Delmas Y, De Parscau L, Doucet L, Ogier H, Benoist JF, Fremeaux-Bacchi V, Le Meur Y.
    Am J Kidney Dis; 2014 Jan; 63(1):119-23. PubMed ID: 24210589
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  • 10. Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
    Ribes A, Briones P, Vilaseca MA, Lluch M, Rodes M, Maya A, Campistol J, Pascual P, Suormala T, Baumgartner R.
    Eur J Pediatr; 1990 Mar; 149(6):412-5. PubMed ID: 2332011
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  • 11. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
    Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.
    J Inherit Metab Dis; 2007 Oct; 30(5):811. PubMed ID: 17768669
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  • 14. A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.
    Mamlok RJ, Isenberg JN, Rassin DK, Norcross K, Tallan HH.
    Neuropediatrics; 1986 May; 17(2):94-9. PubMed ID: 2873525
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  • 16. Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
    Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S, Wagner C, Scaglia F.
    Ann Neurol; 2005 Apr; 57(4):557-60. PubMed ID: 15786446
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  • 20. Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.
    Kakinuma H, Ogura N, Ohtake A, Takayanagi M, Nakajima H, Kondo H, Terada H, Okuda K, Nomoto Y.
    J Inherit Metab Dis; 1985 Apr; 8(3):151-2. PubMed ID: 2879965
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